A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in TP63 gene in Arrhythmogenic Cardiomyopathy patients.

Poloni G., Calore M., Rigato I., Marras E., Minervini G., Mazzotti E., Lorenzon A., Astrid Li Mura I. E., Telatin A., Zara I., Simionati B., Marra M. P., Ponti J., Occhi G., Vitiello L., Daliento L., Thiene G., Basso C., Corrado D., Tosatto S., Bauce B., Rampazzo A., De Bortoli M.. (2018)

Heart rhythm

Arrhythmogenic Cardiomyopathy (ACM) is associated with arrhythmias and risk of sudden death. Mutations in genes encoding proteins of cardiac intercalated discs account for about 60% of ACM cases, but the remaining 40% is still genetically elusive.

Heart rhythm

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